Incidental Mutation 'R6694:Rapgef3'
ID |
528512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef3
|
Ensembl Gene |
ENSMUSG00000022469 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
Synonyms |
Epac1, 9330170P05Rik, 2310016P22Rik |
MMRRC Submission |
044812-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R6694 (G1)
|
Quality Score |
215.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97657865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000149419]
[ENSMUST00000175894]
[ENSMUST00000146620]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126854
AA Change: V246A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: V246A
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
926 |
7.98e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128775
AA Change: V246A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: V246A
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
7e-45 |
BLAST |
RasGEF
|
661 |
909 |
5.53e-80 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129223
AA Change: V246A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: V246A
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
918 |
2.11e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134371
|
SMART Domains |
Protein: ENSMUSP00000122746 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
Blast:cNMP
|
1 |
24 |
9e-8 |
BLAST |
PDB:3CF6|E
|
1 |
67 |
5e-12 |
PDB |
Blast:RasGEFN
|
36 |
67 |
2e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134885
|
SMART Domains |
Protein: ENSMUSP00000135317 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: V204A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: V204A
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
cNMP
|
203 |
322 |
2.53e-12 |
SMART |
RasGEFN
|
341 |
472 |
7.04e-10 |
SMART |
Blast:RasGEF
|
505 |
602 |
3e-45 |
BLAST |
RasGEF
|
619 |
884 |
7.98e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
|
SMART Domains |
Protein: ENSMUSP00000116673 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
95% (41/43) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
Arhgap10 |
A |
G |
8: 78,137,692 (GRCm39) |
F300L |
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
Mrps30 |
C |
T |
13: 118,523,497 (GRCm39) |
V92M |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
Nuak2 |
T |
G |
1: 132,260,048 (GRCm39) |
S609A |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Sae1 |
G |
T |
7: 16,102,461 (GRCm39) |
A171E |
probably damaging |
Het |
Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,263,610 (GRCm39) |
Y76N |
probably damaging |
Het |
|
Other mutations in Rapgef3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Rapgef3
|
APN |
15 |
97,646,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Rapgef3
|
APN |
15 |
97,655,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Rapgef3
|
APN |
15 |
97,647,543 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01902:Rapgef3
|
APN |
15 |
97,648,181 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02137:Rapgef3
|
APN |
15 |
97,648,025 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02419:Rapgef3
|
APN |
15 |
97,648,171 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02427:Rapgef3
|
APN |
15 |
97,645,017 (GRCm39) |
splice site |
probably null |
|
IGL02648:Rapgef3
|
APN |
15 |
97,656,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Rapgef3
|
APN |
15 |
97,646,146 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Rapgef3
|
APN |
15 |
97,647,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03055:Rapgef3
|
UTSW |
15 |
97,647,370 (GRCm39) |
splice site |
probably benign |
|
R0394:Rapgef3
|
UTSW |
15 |
97,655,700 (GRCm39) |
intron |
probably benign |
|
R0538:Rapgef3
|
UTSW |
15 |
97,655,698 (GRCm39) |
intron |
probably benign |
|
R0744:Rapgef3
|
UTSW |
15 |
97,659,466 (GRCm39) |
splice site |
probably benign |
|
R1288:Rapgef3
|
UTSW |
15 |
97,657,223 (GRCm39) |
missense |
probably benign |
0.31 |
R1512:Rapgef3
|
UTSW |
15 |
97,655,382 (GRCm39) |
missense |
probably benign |
0.24 |
R1676:Rapgef3
|
UTSW |
15 |
97,659,063 (GRCm39) |
missense |
probably benign |
0.35 |
R1745:Rapgef3
|
UTSW |
15 |
97,648,059 (GRCm39) |
missense |
probably benign |
0.22 |
R1928:Rapgef3
|
UTSW |
15 |
97,647,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Rapgef3
|
UTSW |
15 |
97,658,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Rapgef3
|
UTSW |
15 |
97,646,529 (GRCm39) |
missense |
probably benign |
0.05 |
R4624:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Rapgef3
|
UTSW |
15 |
97,658,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Rapgef3
|
UTSW |
15 |
97,651,684 (GRCm39) |
missense |
probably benign |
0.21 |
R4928:Rapgef3
|
UTSW |
15 |
97,655,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Rapgef3
|
UTSW |
15 |
97,655,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Rapgef3
|
UTSW |
15 |
97,656,318 (GRCm39) |
missense |
probably benign |
0.00 |
R5837:Rapgef3
|
UTSW |
15 |
97,655,223 (GRCm39) |
splice site |
probably benign |
|
R6056:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R6167:Rapgef3
|
UTSW |
15 |
97,665,292 (GRCm39) |
unclassified |
probably benign |
|
R7039:Rapgef3
|
UTSW |
15 |
97,659,449 (GRCm39) |
missense |
probably benign |
0.01 |
R7154:Rapgef3
|
UTSW |
15 |
97,651,758 (GRCm39) |
missense |
probably benign |
|
R7380:Rapgef3
|
UTSW |
15 |
97,664,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7655:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Rapgef3
|
UTSW |
15 |
97,655,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Rapgef3
|
UTSW |
15 |
97,656,271 (GRCm39) |
critical splice donor site |
probably null |
|
R8061:Rapgef3
|
UTSW |
15 |
97,659,401 (GRCm39) |
missense |
probably benign |
|
R8117:Rapgef3
|
UTSW |
15 |
97,648,747 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
R8819:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8820:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8824:Rapgef3
|
UTSW |
15 |
97,664,789 (GRCm39) |
missense |
probably benign |
0.39 |
R9779:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9781:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
X0011:Rapgef3
|
UTSW |
15 |
97,659,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGGTCTGGTGGTAAGAAAC -3'
(R):5'- AACCATTGGCTTGACTGATTGC -3'
Sequencing Primer
(F):5'- GTCCTAGATTCTATGAGCACCAGG -3'
(R):5'- ACTGATTGCTGTGGAGTGGCC -3'
|
Posted On |
2018-07-24 |